From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Clitoral hypertrophy- MedGen UID:
- 57848
- •Concept ID:
- C0156394
- •
- Finding
Hypertrophy of the clitoris.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
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.
Vaginal atresia- MedGen UID:
- 232948
- •Concept ID:
- C1321884
- •
- Congenital Abnormality
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
Renal hypoplasia/aplasia- MedGen UID:
- 387822
- •Concept ID:
- C1857453
- •
- Finding
Absence or underdevelopment of the kidney.
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.
Aplasia/Hypoplasia of the phalanges of the hand- MedGen UID:
- 341279
- •Concept ID:
- C1848670
- •
- Finding
Small or missing phalangeal bones of the fingers of the hand.
Aplasia/Hypoplasia of the thumb- MedGen UID:
- 465975
- •Concept ID:
- C3179508
- •
- Finding
Hypoplastic/small or absent thumb.
Cutaneous finger syndactyly- MedGen UID:
- 866898
- •Concept ID:
- C4021254
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between two fingers 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 fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Abnormal heart morphology- MedGen UID:
- 6748
- •Concept ID:
- C0018798
- •
- Congenital Abnormality
Any structural anomaly of the heart.
Abnormal umbilicus morphology- MedGen UID:
- 340299
- •Concept ID:
- C1849338
- •
- Anatomical Abnormality
An abnormality of the structure or appearance of the umbilicus.
Abnormality of the anus- MedGen UID:
- 870868
- •Concept ID:
- C4025329
- •
- Anatomical Abnormality
Abnormality of the anal canal.
Abnormal small intestine morphology- MedGen UID:
- 871236
- •Concept ID:
- C4025717
- •
- Anatomical Abnormality
A structural abnormality of the small intestine.
Conductive hearing impairment- MedGen UID:
- 9163
- •Concept ID:
- C0018777
- •
- Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
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.
Atresia of the external auditory canal- MedGen UID:
- 78613
- •Concept ID:
- C0266597
- •
- Congenital Abnormality
Absence or failure to form of the external auditory canal.
Abnormal pinna morphology- MedGen UID:
- 167800
- •Concept ID:
- C0857379
- •
- Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Cupped ear- MedGen UID:
- 335186
- •Concept ID:
- C1845447
- •
- Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Abnormal middle ear morphology- MedGen UID:
- 387824
- •Concept ID:
- C1857456
- •
- Anatomical Abnormality
An abnormality of the morphology or structure of the middle ear.
Hypoplastic superior helix- MedGen UID:
- 355438
- •Concept ID:
- C1865305
- •
- Finding
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Myelomeningocele- MedGen UID:
- 7538
- •Concept ID:
- C0025312
- •
- Congenital Abnormality
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
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.
Abnormal cortical gyration- MedGen UID:
- 343457
- •Concept ID:
- C1856019
- •
- Anatomical Abnormality
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex 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.
Encephalocele- MedGen UID:
- 1646412
- •Concept ID:
- C4551722
- •
- Congenital Abnormality
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Wide pubic symphysis- MedGen UID:
- 387763
- •Concept ID:
- C1857190
- •
- Finding
Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.
Aplasia/Hypoplasia of the sternum- MedGen UID:
- 870542
- •Concept ID:
- C4024990
- •
- Finding
Calvarial skull defect- MedGen UID:
- 871299
- •Concept ID:
- C4025787
- •
- Anatomical Abnormality
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Laryngeal stenosis- MedGen UID:
- 7274
- •Concept ID:
- C0023075
- •
- Pathologic Function
Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.
Subglottic stenosis- MedGen UID:
- 68668
- •Concept ID:
- C0238441
- •
- Anatomical Abnormality
Laryngeal atresia- MedGen UID:
- 78572
- •Concept ID:
- C0265756
- •
- Congenital Abnormality
Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.
Pulmonary hypoplasia- MedGen UID:
- 78574
- •Concept ID:
- C0265783
- •
- Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Laryngeal web- MedGen UID:
- 84297
- •Concept ID:
- C0281890
- •
- Disease or Syndrome
A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
Abnormal thymus morphology- MedGen UID:
- 852464
- •Concept ID:
- C0262650
- •
- Finding
Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
Severe T-cell immunodeficiency- MedGen UID:
- 870751
- •Concept ID:
- C4025208
- •
- Disease or Syndrome
A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.
Cleft upper lip- MedGen UID:
- 40327
- •Concept ID:
- C0008924
- •
- Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Cryptophthalmia- MedGen UID:
- 81386
- •Concept ID:
- C0311249
- •
- Congenital Abnormality
Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
Wide nose- MedGen UID:
- 140869
- •Concept ID:
- C0426421
- •
- Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Absent eyebrow- MedGen UID:
- 98133
- •Concept ID:
- C0431448
- •
- Congenital Abnormality
Absence of the eyebrow.
Choanal stenosis- MedGen UID:
- 108427
- •Concept ID:
- C0584837
- •
- Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Tessier cleft- MedGen UID:
- 146898
- •Concept ID:
- C0685787
- •
- Congenital Abnormality
A congenital malformation with a cleft (gap or opening) in the face.
Facial asymmetry- MedGen UID:
- 266298
- •Concept ID:
- C1306710
- •
- Finding
An abnormal difference between the left and right sides of the face.
Underdeveloped nasal alae- MedGen UID:
- 322332
- •Concept ID:
- C1834055
- •
- Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
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.
Cleft ala nasi- MedGen UID:
- 336715
- •Concept ID:
- C1844537
- •
- Finding
The presence of a notch in the margin of the ala nasi.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Difficulty in tongue movements- MedGen UID:
- 377897
- •Concept ID:
- C1853406
- •
- Finding
Extension of hair growth on temples to lateral eyebrow- MedGen UID:
- 346590
- •Concept ID:
- C1857455
- •
- Finding
A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.
Upper eyelid coloboma- MedGen UID:
- 350283
- •Concept ID:
- C1863872
- •
- Disease or Syndrome
A short discontinuity of the margin of the upper eyelid.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Malformed lacrimal duct- MedGen UID:
- 870314
- •Concept ID:
- C4024757
- •
- Anatomical Abnormality
Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.
Lacrimal duct aplasia- MedGen UID:
- 870330
- •Concept ID:
- C4024773
- •
- Congenital Abnormality
A congenital defect resulting in absence of the lacrimal duct.
Midline nasal groove- MedGen UID:
- 870949
- •Concept ID:
- C4025412
- •
- Anatomical Abnormality
An abnormal groove on the midline of the nose that may extend to the nasal tip.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Absent eyelashes- MedGen UID:
- 334299
- •Concept ID:
- C1843005
- •
- Congenital Abnormality
Lack of eyelashes.
Wide intermamillary distance- MedGen UID:
- 473489
- •Concept ID:
- C1827524
- •
- Finding
A larger than usual distance between the left and right nipple.
Anophthalmia- MedGen UID:
- 314
- •Concept ID:
- C0003119
- •
- Congenital Abnormality
Absence of the globe or eyeball.
Corneal opacity- MedGen UID:
- 40485
- •Concept ID:
- C0010038
- •
- Finding
A reduction of corneal clarity.
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).
Blindness- MedGen UID:
- 99138
- •Concept ID:
- C0456909
- •
- Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Bilateral microphthalmos- MedGen UID:
- 334420
- •Concept ID:
- C1843496
- •
- Congenital Abnormality
A developmental anomaly characterized by abnormal smallness of both eyes.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the breast
- Abnormality of the cardiovascular system
- Abnormality of the digestive 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